CDX1: Caudal Type Homeobox 1
A key transcription factor in intestinal development and homeostasis, implicated in colorectal cancer and Barrett's esophagus.
Gene Information Card
| Symbol | CDX1 |
|---|---|
| Full Name | Caudal Type Homeobox 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q32 |
| NCBI Gene ID | 1044 ncbi.nlm.nih.gov/gene/1044 |
| Ensembl ID | ENSG00000113722 |
| UniProt ID | P47902 |
| OMIM ID | 600746 |
| HGNC ID | 1806 |
| Aliases | CDX-1, caudal-type homeobox 1 |
Description
CDX1 is a homeobox transcription factor that plays a critical role in the development and maintenance of the intestinal epithelium. It regulates the expression of genes involved in cell proliferation, differentiation, and intestinal-specific functions. CDX1 is essential for anterior-posterior patterning during embryogenesis and is frequently dysregulated in colorectal cancer and Barrett's esophagus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Loss of CDX1 expression is associated with tumor progression and poor prognosis. CDX1 acts as a tumor suppressor by promoting differentiation and inhibiting proliferation. | PMID: 10892751, PMID: 15696293 |
| Barrett's Esophagus | Ectopic expression of CDX1 in the esophageal epithelium induces intestinal metaplasia, a precursor to esophageal adenocarcinoma. | PMID: 11950921, PMID: 15188112 |
| Intestinal Metaplasia of the Stomach | CDX1 expression is aberrantly activated in gastric mucosa, driving intestinal-type differentiation and contributing to gastric carcinogenesis. | PMID: 12460913 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Duodenum | 112.3 | High |
| Small Intestine | 98.7 | High |
| Colon | 85.4 | High |
| Rectum | 79.2 | High |
| Stomach | 1.2 | Low |
| Esophagus | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (colorectal adenocarcinoma) | 45.6 | Differentiated enterocyte-like phenotype |
| HT-29 (colorectal adenocarcinoma) | 32.1 | Moderate expression |
| SW480 (colorectal adenocarcinoma) | 12.4 | Low expression |
| HCT 116 (colorectal carcinoma) | 8.9 | Low expression |
| HeLa (cervical carcinoma) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341C>T (p.Pro114Leu) | Missense | <0.1% | Unknown functional effect; rare variant |
| c.424G>A (p.Glu142Lys) | Missense | <0.1% | Unknown functional effect; rare variant |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Reduced or absent CDX1 expression is common in colorectal cancer, leading to loss of differentiation and increased proliferation.
Gain of Function (GOF)
Ectopic expression in esophageal and gastric tissues drives intestinal metaplasia.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CDX1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Intestinal epithelial differentiation
• Wnt signaling pathway
• Notch signaling pathway
Protein Summary
The CDX1 protein is a 265-amino acid homeodomain-containing transcription factor. It binds to specific DNA sequences to regulate the expression of genes involved in intestinal development and homeostasis. The protein is predominantly nuclear and is essential for the maintenance of the intestinal epithelial phenotype.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDX1 Knockout HEK293 Cell Line | EDJ-KQ4248 | Human | 1044 | Details Get a Quote |
| CDX1 Knockout HeLa Cell Line | EDJ-KQ52870 | Human | 1044 | Details Get a Quote |
| CDX1 Knockout A-549 Cell Line | EDJ-KQ61340 | Human | 1044 | Details Get a Quote |
| CDX1 Knockout HCT 116 Cell Line | EDJ-KQ69835 | Human | 1044 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
